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187 results

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Synthetic dosage-compensating miRNA circuits allow precision gene therapy for Rett syndrome.
Flynn MJ, Mayfield AMH, Du R, Gradinaru V, Elowitz MB. Flynn MJ, et al. bioRxiv [Preprint]. 2024 Mar 14:2024.03.13.584179. doi: 10.1101/2024.03.13.584179. bioRxiv. 2024. PMID: 38559034 Free PMC article. Preprint.
For example, loss of MECP2 function causes Rett syndrome, while its duplication causes MECP2 duplication syndrome. Viral gene delivery methods generate variable numbers of gene copies in individual cells, creating a need for gene dosage-invariant expression s …
For example, loss of MECP2 function causes Rett syndrome, while its duplication causes MECP2 duplication syndrome. Vira …
[Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with co-morbid Ornithine carbamoyl transferase deficiency and MECP2 duplication syndrome].
Zhang Q, Hao S, Hui L, Zheng L, Wang X, Feng X, Liu F, Chen X, Zhou B, Wang Y, Zhang C. Zhang Q, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Mar 10;41(3):306-311. doi: 10.3760/cma.j.cn511374-20221202-00828. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38448019 Chinese.
Considering the possible existence of X-chromosome inactivation, the proband was diagnosed with two X-linked recessive disorders including OTCD and MECP2 duplication syndrome, and the fetus was determined as a male affected with the MECP2 duplicatio …
Considering the possible existence of X-chromosome inactivation, the proband was diagnosed with two X-linked recessive disorders including O …
Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders.
Suter B, Pehlivan D, Ak M, Harris HK, Lyons-Warren AM. Suter B, et al. Autism Res. 2024 Apr;17(4):775-784. doi: 10.1002/aur.3112. Epub 2024 Mar 3. Autism Res. 2024. PMID: 38433353
Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (MDS), respectively. Individuals with both disorders exhibit overlapping autism symptoms, yet few studies have dissected the differences betwe …
Loss of function mutations or increased copies of MECP2 result in Rett syndrome (RTT) and MECP2 duplication syndrome (M …
MECP2-related disorders while gene-based therapies are on the horizon.
Allison K, Maletic-Savatic M, Pehlivan D. Allison K, et al. Front Genet. 2024 Feb 12;15:1332469. doi: 10.3389/fgene.2024.1332469. eCollection 2024. Front Genet. 2024. PMID: 38410154 Free PMC article. Review.
Loss of MECP2 gene product leads to Rett Syndrome, a disease found primarily in females, and is characterized by developmental regression, motor dysfunction, midline hand stereotypies, autonomic nervous system dysfunction, epilepsy, scoliosis, and autistic-like behavior. Duplicat …
Loss of MECP2 gene product leads to Rett Syndrome, a disease found primarily in females, and is characterized by developmental regression, m …
Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
Zeng L, Zhu H, Wang J, Wang Q, Pang Y, Luo Z, Chen A, Qin S, Zhu S. Zeng L, et al. BMC Med Genomics. 2024 Feb 19;17(1):54. doi: 10.1186/s12920-024-01831-9. BMC Med Genomics. 2024. PMID: 38373942 Free PMC article.
BACKGROUND: MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. ...
BACKGROUND: MECP2 duplication syndrome (MDS) is a rare X-linked genomic disorder that primarily affects males. ...
Development and validation of parent-reported gastrointestinal health scale in MECP2 duplication syndrome.
Pehlivan D, Aras S, Glaze DG, Ak M, Suter B, Motil KJ. Pehlivan D, et al. Orphanet J Rare Dis. 2024 Feb 9;19(1):52. doi: 10.1186/s13023-024-03022-2. Orphanet J Rare Dis. 2024. PMID: 38331915 Free PMC article.
BACKGROUND/AIMS: We aimed to develop a validated patient-reported Gastrointestinal Health Scale (GHS) specific to MECP2 Duplication Syndrome (MDS) to be used in clinical trials. METHODS: MDS parents completed a Gastrointestinal Health Questionnaire (GHQ) to i …
BACKGROUND/AIMS: We aimed to develop a validated patient-reported Gastrointestinal Health Scale (GHS) specific to MECP2 Duplicatio …
The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome.
Sadhu C, Lyons C, Oh J, Jagadeeswaran I, Gray SJ, Sinnett SE. Sadhu C, et al. Genes (Basel). 2023 Dec 24;15(1):31. doi: 10.3390/genes15010031. Genes (Basel). 2023. PMID: 38254921 Free PMC article.
Inactivating mutations and the duplication of methyl-CpG binding protein 2 (MeCP2), respectively, mediate Rett syndrome (RTT) and MECP2 duplication syndrome. These disorders underscore the conceptual dose-dependent risk posed by MECP2 gene therapy for mosaic …
Inactivating mutations and the duplication of methyl-CpG binding protein 2 (MeCP2), respectively, mediate Rett syndrome (RTT) and MECP2 …
POMC-specific knockdown of MeCP2 leads to adverse phenotypes in mice chronically exposed to high fat diet.
Frayre P, Ponce-Rubio K, Frayre J, Medrano J, Na ES. Frayre P, et al. Behav Brain Res. 2024 Mar 12;461:114863. doi: 10.1016/j.bbr.2024.114863. Epub 2024 Jan 13. Behav Brain Res. 2024. PMID: 38224819
Methyl-CpG binding protein 2 (MeCP2) is an epigenetic factor associated with the neurodevelopmental disorders Rett Syndrome and MECP2 duplication syndrome. Previous studies have demonstrated that knocking out MeCP2 globally in the central nervous system leads …
Methyl-CpG binding protein 2 (MeCP2) is an epigenetic factor associated with the neurodevelopmental disorders Rett Syndrome and MECP2 …
[Diagnosis of MECP2 duplication in a child and prenatally].
Bokor BA, Török D, Horváth E, László Z, Pál M, Szűcs P, Széll M. Bokor BA, et al. Orv Hetil. 2024 Jan 7;165(1):30-34. doi: 10.1556/650.2024.32956. Print 2024 Jan 7. Orv Hetil. 2024. PMID: 38189840 Hungarian.
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication Syndrome.
Mendonca D, Cappuccio G, Sheppard J, Delacruz M, Bengtsson J, Carvalho CMB, Bajic A, Park H, Kim JJ, Jafar-Nejad P, Coquery C, Pehlivan D, Suter B, Maletic-Savatic M. Mendonca D, et al. Stem Cell Res. 2024 Feb;74:103292. doi: 10.1016/j.scr.2023.103292. Epub 2023 Dec 21. Stem Cell Res. 2024. PMID: 38154383 Free article.
MECP2 Duplication Syndrome (MDS) is a rare, severe neurodevelopmental disorder arising from duplications in the Xq28 region containing the MECP2 gene that predominantly affects males. ...
MECP2 Duplication Syndrome (MDS) is a rare, severe neurodevelopmental disorder arising from duplications in the Xq28 re …
187 results

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